Phenotypes Associated with This Genotype

Genotype
MGI:2177702

• Allelic Composition: Ptch1^tm1Mps/Ptch1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

neoplasm

increased tumor incidence ( J:42441 )

• soft tissue tumors

increased medulloblastoma incidence ( J:42441 )

• tumors arise as early as 5 weeks of age and increase in severity and frequency with age

growth/size/body

increased body size ( J:42441 )

limbs/digits/tail

polydactyly ( J:42441 )

• seen in a small fraction of heterozygotes

syndactyly ( J:42441 )

• seen in a small fraction of heterozygotes

nervous system

increased medulloblastoma incidence ( J:42441 )

• tumors arise as early as 5 weeks of age and increase in severity and frequency with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:42441